Genetic susceptibility to orthopaedic conditions is of interest to clinicians and patients alike. While the link between genetics and certain pediatric conditions is known, studies of sets of twins are providing new insights into adult issues, such as osteoarthritis, and the impact that genetics may have.
In the current issue of JBJS, Hailer et al. report on an investigation in Sweden in which they analyzed genetic susceptibility to hip and knee osteoarthritis necessitating total hip arthroplasty (THA) or total knee arthroplasty (TKA), and whether body mass index (BMI) moderates the heritability of these outcomes. They linked nearly 30,000 twin pairs with BMI information in the Swedish Twin Registry with the Swedish National Patient Register to identify twins who had undergone THA or TKA with a primary diagnosis of osteoarthritis. Structural equation modeling was then used to calculate the heritability of osteoarthritis treated with THA or TKA and how it related to BMI, age, and sex.
The authors note that, for radiographically defined knee osteoarthritis, previous twin studies have shown that the genetic susceptibility (“the proportion of the variation of a trait that can be attributed to the variation of genetic factors”) is between 0.4 to 0.8. In twin studies using total joint replacement as the outcome, heritability has been estimated to be 0.2 for TKA and 0.5 for THA.
Hailer et al. found that, on average in their cohort, approximately half of the susceptibility to undergo THA or TKA for osteoarthritis was explained by heritability, with similar estimates demonstrated for the 2 procedures: THA, 0.65 (95% CI, 0.59 to 0.70) and TKA, 0.57 (95% CI, 0.50 to 0.64). Of note, heritability decreased with higher BMI in both men and women for THA and in men for TKA. But in women, heritability for TKA increased with higher BMI (0.37 for a BMI of 20 kg/m2 and 0.87 for a BMI of 35 kg/m2).
Although the need for THA or TKA is not a perfect indicator of osteoarthritis (plenty of osteoarthritis does not become symptomatic enough to warrant total joint arthroplasty), this large study offers further data on the question of genetic susceptibility to the development of osteoarthritis. Understanding the influence of obesity (a modifiable risk factor) becomes increasingly important and warrants continued investigation in studies exploring heritability in relation to orthopaedic conditions.
Matthew R. Schmitz, MD
JBJS Deputy Editor for Social Media